[Molecular analysis of Japanese patients with metachromatic leukodystrophy].

Article

[Molecular analysis of Japanese patients with metachromatic leukodystrophy].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Hasegawa Y, Kawame H, Eto Y

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by a deficiency of arylsulfatase A (ASA). Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. To investigate the molecular basis of Japanese patients with MLD,...

Topics

Age of Onset
Amino Acid Sequence
Asian People
Base Sequence
Cerebroside-Sulfatase
DNA
Genotype
Humans
Japan
Leukodystrophy, Metachromatic
Molecular Sequence Data
Mutation
Phenotype

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